Miss Leigh Demain

Research Associate

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Publications

  1. 2016
  2. Published

    Expanding the Genotypic Spectrum of Perrault syndrome.

    Demain, L., Urquhart, J., O'Sullivan, J., Williams, S., Jenkinson, E., Bhaskar, S. S., Lourenco, C. M., Heiberg, A., Pearce, S. H., Shalev, S. A., Yue, W. W., Mackinnon, S., Munro, K., Newbury-Ecob, R., Becker, K., Kim, M. J., O'Keefe, R. & Newman, W., 2016, In : Clinical Genetics.

    Research output: Contribution to journalArticle

  3. Published

    Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

    Faridi, R., Rehman, A. U., Morell, R. J., Friedman, P. E., Demain, L., Zahra, S., Khan, A. A., Tohlob, D., Assir, M. Z., Beaman, G., Khan, S. N., Newman, W., Riazuddin, S. & Friedman, T. B., 2016, In : Clinical Genetics. 15 p.

    Research output: Contribution to journalArticle

  4. 2017
  5. Published

    Genetics of mitochondrial dysfunction and infertility

    Demain, L. A. M., Conway, G. S. & Newman, W., Feb 2017, In : Clinical Genetics. 91, 2, p. 199-207 9 p.

    Research output: Contribution to journalReview article

  6. Published

    Marfanoid habitus is a nonspecific feature of Perrault syndrome

    Zerkaoui, M., Demain, L. A. M., Cherkaoui Jaouad, I., Ratbi, I., Amjoud, K., Urquhart, J. E., O'Sullivan, J., Newman, W. G. & Sefiani, A., 1 Oct 2017, In : Clinical dysmorphology. 26, 4, p. 200-204 5 p.

    Research output: Contribution to journalArticle

  7. 2018
  8. Published

    A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects

    Demain, L. A. M., Antunes, D., O'Sullivan, J., Bhaskhar, S. S., O'Keefe, R. T. & Newman, W. G., 19 Apr 2018, In : Clinical Genetics.

    Research output: Contribution to journalArticle

  9. 2019
  10. Accepted/In press

    Diagnosing and Preventing Hearing Loss in the Genomic Age

    Newman, W., McDermott, J. H., Black, G., Morton, C., Bruce, I., Demain, L., Mahood, R., Body, R., Ulph, F., Macleod, R. & Wilson, P., 6 Sep 2019, (Accepted/In press) In : Trends in Hearing (Online).

    Research output: Contribution to journalReview article

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Research output: Contribution to journalArticle